OMIA group 2811
Multiple ocular defects, COL11A1-related
The chain reaches the human disease Stickler syndrome type 2, which Mondo defines as: “Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).”
The chain
From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.
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Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
1 Open Targets association, with a best score of 0.82.
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Drugs
Reached
2 ChEMBL drugs, 2 approved. None has been tested for this disease.
Natural-model score
How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.
65.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.82 | 28.7 of 35 |
| Drugs | Drugs act on its genes, but no drug has been tested for this disease | 2.5 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | Both routes found this disease | 10.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:002811-9615 | Yes |
Genes
Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.
| Species | Animal gene | Human gene | Ortholog |
|---|---|---|---|
| dog | COL11A1 collagen type XI alpha 1 chain NCBI Gene 100685969 | COL11A1 Ensembl | one to one |
Human diseases
Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.
- OMIA's own Mondo link: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0011493 | Stickler syndrome type 2 Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21). | Both routes |
Target evidence
Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.
| Human gene | Human disease | Score | Evidence | Kinds of evidence |
|---|---|---|---|---|
| COL11A1 | Stickler syndrome type 2 | 0.82 | 352 | Genetic association 0.90 Genetic literature 0.84 Animal model 0.32 Literature 0.16 |
Drugs
Drugs act on COL11A1, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Collagenase Clostridium Histolyticum | COL11A1 | hydrolytic enzyme | Approved | No |
| Ocriplasmin | COL11A1 | hydrolytic enzyme | Approved | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.